This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008] See more...

Aliases for ASH1L Gene

Aliases for ASH1L Gene

  • ASH1 Like Histone Lysine Methyltransferase 2 3 5
  • Absent Small And Homeotic Disks Protein 1 Homolog 3 4
  • Histone-Lysine N-Methyltransferase ASH1L 3 4
  • Lysine N-Methyltransferase 2H 3 4
  • ASH1-Like Protein 3 4
  • KMT2H 3 4
  • Ash1 (Absent, Small, Or Homeotic)-Like (Drosophila) 2
  • Probable Histone-Lysine N-Methyltransferase ASH1L 3
  • Ash1 (Absent, Small, Or Homeotic)-Like 3
  • EC 2.1.1.43 52
  • EC 2.1.1.- 4
  • KIAA1420 4
  • ASH1L1 3
  • HuASH1 4
  • MRD52 3
  • ASH1 3

External Ids for ASH1L Gene

Previous GeneCards Identifiers for ASH1L Gene

  • GC01M152084
  • GC01M152523
  • GC01M152119
  • GC01M153571
  • GC01M155305
  • GC01M126666

Summaries for ASH1L Gene

Entrez Gene Summary for ASH1L Gene

  • This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]

GeneCards Summary for ASH1L Gene

ASH1L (ASH1 Like Histone Lysine Methyltransferase) is a Protein Coding gene. Diseases associated with ASH1L include Mental Retardation, Autosomal Dominant 52 and Pulpitis. Among its related pathways are PKMTs methylate histone lysines and Chromatin organization. Gene Ontology (GO) annotations related to this gene include chromatin binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is KMT2A.

UniProtKB/Swiss-Prot Summary for ASH1L Gene

  • Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me) (PubMed:21239497). Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). The physiological significance of the H3K9me1 activity is unclear (By similarity).

Gene Wiki entry for ASH1L Gene

Additional gene information for ASH1L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASH1L Gene

Genomics for ASH1L Gene

GeneHancer (GH) Regulatory Elements for ASH1L Gene

Promoters and enhancers for ASH1L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASH1L on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASH1L

Top Transcription factor binding sites by QIAGEN in the ASH1L gene promoter:
  • AML1a
  • AREB6
  • COMP1
  • En-1
  • Ik-3
  • NCX
  • Olf-1
  • S8
  • YY1

Genomic Locations for ASH1L Gene

Genomic Locations for ASH1L Gene
chr1:155,335,261-155,562,850
(GRCh38/hg38)
Size:
227,590 bases
Orientation:
Minus strand
chr1:155,305,052-155,532,598
(GRCh37/hg19)
Size:
227,547 bases
Orientation:
Minus strand

Genomic View for ASH1L Gene

Genes around ASH1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASH1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASH1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASH1L Gene

Proteins for ASH1L Gene

  • Protein details for ASH1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR48-ASH1L_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase ASH1L
    Protein Accession:
    Q9NR48
    Secondary Accessions:
    • Q59GP1
    • Q5T714
    • Q5T715
    • Q9P2C7

    Protein attributes for ASH1L Gene

    Size:
    2969 amino acids
    Molecular mass:
    332790 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA92658.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ASH1L Gene

    Alternative splice isoforms for ASH1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASH1L Gene

Selected DME Specific Peptides for ASH1L Gene

Q9NR48:
  • NHSCDPN
  • QKWSVNG

Post-translational modifications for ASH1L Gene

Domains & Families for ASH1L Gene

Protein Domains for ASH1L Gene

Blocks:
  • Zn-finger-like, PHD finger
  • Bromo adjacent region
  • Nuclear protein SET
  • Bromodomain signature
  • SET-related region
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ASH1L Gene

GenScript: Design optimal peptide antigens:
  • Lysine N-methyltransferase 2H (ASH1L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NR48

UniProtKB/Swiss-Prot:

ASH1L_HUMAN :
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
genes like me logo Genes that share domains with ASH1L: view

Function for ASH1L Gene

Molecular function for ASH1L Gene

UniProtKB/Swiss-Prot Function:
Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me) (PubMed:21239497). Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). The physiological significance of the H3K9me1 activity is unclear (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl-[histone] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl-[histone] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:10024, Rhea:RHEA-COMP:9845, Rhea:RHEA-COMP:9846, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929; Evidence=. ;.

Enzyme Numbers (IUBMB) for ASH1L Gene

Phenotypes From GWAS Catalog for ASH1L Gene

Gene Ontology (GO) - Molecular Function for ASH1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IEA --
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with ASH1L: view
genes like me logo Genes that share phenotypes with ASH1L: view

Human Phenotype Ontology for ASH1L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASH1L Gene

MGI Knock Outs for ASH1L:
  • Ash1l Ash1l<tm2b(EUCOMM)Hmgu>

Animal Model Products

miRNA for ASH1L Gene

miRTarBase miRNAs that target ASH1L

Clone Products

  • Addgene plasmids for ASH1L

No data available for Transcription Factor Targets and HOMER Transcription for ASH1L Gene

Localization for ASH1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASH1L Gene

Nucleus. Cell junction, tight junction. Chromosome. Note=The relevance of tight junction localization is however unclear. {ECO:0000269 PubMed:10860993}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASH1L gene
Compartment Confidence
nucleus 5
golgi apparatus 4
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASH1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10860993
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005923 bicellular tight junction TAS,IEA --
genes like me logo Genes that share ontologies with ASH1L: view

Pathways & Interactions for ASH1L Gene

genes like me logo Genes that share pathways with ASH1L: view

Pathways by source for ASH1L Gene

1 BioSystems pathway for ASH1L Gene
2 KEGG pathways for ASH1L Gene

SIGNOR curated interactions for ASH1L Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ASH1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0002674 negative regulation of acute inflammatory response IEA --
GO:0006323 DNA packaging TAS 10860993
GO:0006325 chromatin organization IEA --
GO:0006366 transcription by RNA polymerase II TAS 10860993
genes like me logo Genes that share ontologies with ASH1L: view

Drugs & Compounds for ASH1L Gene

(1) Drugs for ASH1L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for ASH1L Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with ASH1L: view

Transcripts for ASH1L Gene

mRNA/cDNA for ASH1L Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for ASH1L

Alternative Splicing Database (ASD) splice patterns (SP) for ASH1L Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:

ExUns: 23a · 23b ^ 24 ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28a · 28b ^ 29
SP1: - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:

Relevant External Links for ASH1L Gene

GeneLoc Exon Structure for
ASH1L

Expression for ASH1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASH1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ASH1L Gene

This gene is overexpressed in Fetal Brain (53.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ASH1L Gene



Protein tissue co-expression partners for ASH1L Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASH1L

SOURCE GeneReport for Unigene cluster for ASH1L Gene:

Hs.491060

mRNA Expression by UniProt/SwissProt for ASH1L Gene:

Q9NR48-ASH1L_HUMAN
Tissue specificity: Widely expressed, with highest level in brain, heart and kidney.

Evidence on tissue expression from TISSUES for ASH1L Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with ASH1L: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASH1L Gene

Orthologs for ASH1L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ASH1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASH1L 31 30
  • 99.75 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ASH1L 31 30
  • 93.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ASH1L 31 30
  • 91.74 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASH1L 31
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ash1l 30
  • 89.35 (n)
mouse
(Mus musculus)
Mammalia Ash1l 17 31 30
  • 89.02 (n)
oppossum
(Monodelphis domestica)
Mammalia ASH1L 31
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASH1L 31 30
  • 75.56 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASH1L 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20154 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.4459 30
zebrafish
(Danio rerio)
Actinopterygii ash1l 31
  • 48 (a)
OneToOne
wufi34d11 30
fruit fly
(Drosophila melanogaster)
Insecta ash1 31
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea set-25 31
  • 17 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BYE1 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
ManyToMany
Cin.2897 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2897 30
Species where no ortholog for ASH1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ASH1L Gene

ENSEMBL:
Gene Tree for ASH1L (if available)
TreeFam:
Gene Tree for ASH1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASH1L: view image

Paralogs for ASH1L Gene

(4) SIMAP similar genes for ASH1L Gene using alignment to 3 proteins:

  • ASH1L_HUMAN
  • F8VWK7_HUMAN
  • H0YI82_HUMAN
genes like me logo Genes that share paralogs with ASH1L: view

Variants for ASH1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASH1L Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
638473 Uncertain Significance: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 155,480,537(-) C/T MISSENSE_VARIANT
662987 Pathogenic: not provided 155,479,877(-) AAC/A FRAMESHIFT_VARIANT
691409 Uncertain Significance: Pyloric stenosis; Esophageal atresia 155,439,037(-) T/A MISSENSE_VARIANT
691410 Uncertain Significance: Pyloric stenosis; Esophageal atresia 155,354,505(-) C/T MISSENSE_VARIANT
711112 Benign: not provided 155,370,644(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ASH1L Gene

Structural Variations from Database of Genomic Variants (DGV) for ASH1L Gene

Variant ID Type Subtype PubMed ID
dgv3n68 CNV loss 17160897
esv2476624 CNV deletion 19546169
esv2718418 CNV deletion 23290073
esv2758971 CNV gain 17122850
esv33869 CNV loss 17666407
esv3587623 CNV loss 21293372
esv3587625 CNV loss 21293372
esv3587626 CNV loss 21293372
esv3890671 CNV gain 25118596
nsv1145374 CNV deletion 24896259
nsv1150150 CNV duplication 26484159
nsv831636 CNV loss 17160897
nsv946415 CNV duplication 23825009
nsv946416 CNV duplication 23825009
nsv946417 CNV duplication 23825009

Variation tolerance for ASH1L Gene

Residual Variation Intolerance Score: 0.319% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.92; 67.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASH1L Gene

Human Gene Mutation Database (HGMD)
ASH1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASH1L

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASH1L Gene

Disorders for ASH1L Gene

MalaCards: The human disease database

(6) MalaCards diseases for ASH1L Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ASH1L in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ASH1L_HUMAN
  • Mental retardation, autosomal dominant 52 (MRD52) [MIM:617796]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:23033978, ECO:0000269 PubMed:27824329, ECO:0000269 PubMed:28191889, ECO:0000269 PubMed:28394464}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ASH1L

genes like me logo Genes that share disorders with ASH1L: view

No data available for Genatlas for ASH1L Gene

Publications for ASH1L Gene

  1. huASH1 protein, a putative transcription factor encoded by a human homologue of the Drosophila ash1 gene, localizes to both nuclei and cell-cell tight junctions. (PMID: 10860993) Nakamura T … Canaani E (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4 23 54
  2. Novel MCA/ID syndrome with ASH1L mutation. (PMID: 28394464) Okamoto N … Kosaki K (American journal of medical genetics. Part A 2017) 3 4 54
  3. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. (PMID: 28191889) Stessman HA … Eichler EE (Nature genetics 2017) 3 4 54
  4. Crystal structure of the human histone methyltransferase ASH1L catalytic domain and its implications for the regulatory mechanism. (PMID: 21239497) An S … Song JJ (The Journal of biological chemistry 2011) 3 4 54
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54

Products for ASH1L Gene